--- license: permission_granted topic_id: companion_breed_health_domestic_longhair_omia2820_cat category: companion-breed-health title: "Domestic Longhair — Vitamin D-deficiency rickets, type II (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/domestic_longhair_omia2820_2820.txt date_parsed: 2026-08-02 tokens_estimated: 289 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_longhair_omia2820_cat/01_companion_breed_health_domestic_longhair_omia2820_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Domestic Longhair — Vitamin D-deficiency rickets, type II (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001431/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Domestic Longhair — Vitamin D-deficiency rickets, type II (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Domestic Longhair (Cat)Disorder:Mode of inheritance: Probably autosomal recessiveClin feat: Habacher et al. (2023) investigated a 14-week-old female domestic longhair kitten presented for shifting lameness and reluctance to jump. The kitten was substantially smaller (approximately 50% the size) than its male littermate. ... The afflicted kitten had marked hypocalcemia, mild hypophosphatemia and substantial elevations in alkaline phosphatase activity, as well as pathognomonic radiographic findings consistent with rickets. ... Endocrine testing demonstrated significant increases in serum concentrations of PTH and 1,25-dihydroxycholecalciferol (calcitriol), supporting a diagnosis of vitamin D-dependent rickets type 2.brSuzuki et al. (2025) investigated an 11-month-old female domestic shorthair kitten with lameness and an inability to close her mouth. The kitten had marked hypocalcemia with elevated intact parathyroid hormone and 1,25(OH)2D3 levels.nbsp; Radiographic imaging indicated generalized osteopenia and dysplasia of temporomandibular joints.Defect: yes
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 389093107 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Habacher et al. (2023) investigated a domestic longhair kitten with rickets. Whole-exome sequencing identified a "cytosine deletion at cat chromosome position B4:76777621 in VDR (ENSFCAT00000029466:c.106delC)" (omia.variant:1586). The variant was "predicted to cause a stop codon in exon 2 (p.Arg36Glufs*18), disrupting >90% of the receptor. The variant was unique and homozygous in this patient a…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2005. Vitamin D-dependent rickets type 2 with characteristic radiographic changes in a 4-month-old kitten. J Feline Med Surg — PubMed:PMID16182185 | DOI:10.1016/j.jfms.2005.01.003 — OMIA Phene_Article / Article
- 2003. Vitamin D-dependent rickets type 2 in a four-month-old cat. J Am Vet Med Assoc — PubMed:PMID12564596 — OMIA Phene_Article / Article
- 2005. Vitamin D-dependent rickets type II in a cat. J Small Anim Pract — PubMed:PMID16167595 — OMIA Phene_Article / Article
- 1999. Rickets caused by excessive renal phosphate loss and apparent abnormal vitamin D metabolism in a cat. J Am Vet Med Assoc — PubMed:PMID14567428 — OMIA Phene_Article / Article
- 2021. Vitamin D metabolism and disorders in dogs and cats. J Small Anim Pract — PubMed:PMID34323302 | DOI:10.1111/jsap.13401 — OMIA Phene_Article / Article
- 2023. Feline precision medicine using whole-exome sequencing identifies a novel frameshift mutation for vitamin D-dependent rickets type 2. J Feline Med Surg — PubMed:PMID37387221 | DOI:10.1177/1098612X231165630 — OMIA Phene_Article / Article
- 2025. Feline vitamin D-dependent rickets type 2 caused by a missense variant in the vitamin D receptor gene. J Vet Med Sci — PubMed:PMID41083377 | DOI:10.1292/jvms.25-0307 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:277440 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:601769 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."